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Table 1 Clinical features of patients with FARSA-related disorder

From: Fatal systemic disorder caused by biallelic variants in FARSA

 

Patient 1 (Present study)

Patient 2 (Krenke et al.)

Patient 3 (Schuch et al.)

Patient 4 (Schuch et al.)

Patient 5 (Schuch et al.)

Sex

Male

Male

Female

Female

Male

Age at last examination

Died at 28 months

15 years

17 years

Died at 1.3 years

Died at 12.9 years

FARSA genotype

 Variant 1

c.1424G > A (R475Q)

c.776 T > C (F256L)

c.1210C > T (R404C)

c.883C > T (R295W)

c.829 T > G (F277V)

 Variant 2

c.1040C > T (P347L)

c.1230C > A (N410K)

c.1254G > C (E418D)

c.883C > T (R295W)

c.829 T > G (F277V)

Central nervous system

 Neonatal hypotonia

+

+

+

+

 Motor delay

+

+

+

+

 Speech delay

+

+

+

 Brain imaging

Diffuse atrophy and calcifications at both deep grey matter

Subcortical calcifications

Periventricular cysts

Multiple subcortical white matter lesions

Elongated brain arteries

Normal by 1 month

Arachnoid cyst

Nutrition and growth

 Feeding intolerance

+

+

+

 Poor weight gain

+

+

+

+

+

 Vomiting and diarrhoea

+

+

+

Lung involvement

 Recurrent respiratory infection

+

+

+

+

+

 Interstitial lung disease

+

+

+

+

+

 Cholesterol pneumonitis

+

+

+

+

 Cystic lung disease

+

 Others

     

Renal involvement

 Proteinuria

+

 Tubulopathy

+

+

 Vesicourethral reflux

+

 Others

Increased renal echogenicity

 

Nephrolithiasis

Hepatic involvement

 Abnormal liver function

+

+

+

+

+

 Hepatosplenomegaly

+

+

+

+

 Liver steatosis

+

+

+

+

 Liver fibrosis

+

  

Hormonal insufficiency

Subclinical hypothyroidism

Adrenal insufficiency

Hypopituitarism

Growth hormone resistance

Growth hormone deficiency

Dysmorphism/malformation

Deep-set eyes, elfin-like face

Skeletal involvement

Scoliosis, arachnodactyly, pectus carinatum

Hyperflexible joints

Arachnoid fingers

Pectus carinatum, hyperflexible joint

Others

Pancytopenia

Left inguinal hernia

Microcytic anaemia

Intermittent nystagmus

Sensorineural hearing loss